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ATG9B autophagy related 9B [ Homo sapiens (human) ]

Gene ID: 285973, updated on 6-Nov-2022

Summary

Official Symbol
ATG9Bprovided by HGNC
Official Full Name
autophagy related 9Bprovided by HGNC
Primary source
HGNC:HGNC:21899
See related
Ensembl:ENSG00000181652 MIM:612205; AllianceGenome:HGNC:21899
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
SONE; APG9L2; NOS3AS
Summary
This gene functions in the regulation of autophagy, a lysosomal degradation pathway. This gene also functions as an antisense transcript in the posttranscriptional regulation of the endothelial nitric oxide synthase 3 gene, which has 3' overlap with this gene on the opposite strand. Mutations in this gene and disruption of the autophagy process have been associated with multiple cancers. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2012]
Expression
Broad expression in skin (RPKM 9.1), placenta (RPKM 8.7) and 15 other tissues See more
Orthologs
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Genomic context

See ATG9B in Genome Data Viewer
Location:
7q36.1
Exon count:
19
Annotation release Status Assembly Chr Location
110 current GRCh38.p14 (GCF_000001405.40) 7 NC_000007.14 (151012209..151024499, complement)
110 current T2T-CHM13v2.0 (GCF_009914755.1) 7 NC_060931.1 (152185332..152197622, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (150709297..150721586, complement)

Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene potassium voltage-gated channel subfamily H member 2 Neighboring gene uncharacterized LOC124901776 Neighboring gene NOS3 5' regulatory region Neighboring gene nitric oxide synthase 3 Neighboring gene uncharacterized LOC124901777 Neighboring gene ATP binding cassette subfamily B member 8

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

HIV-1 interactions

Replication interactions

Interaction Pubs
Macrophage exposure to infectious or AT-2 inactivated HIV-1 increases expression of the TFEB targets ATG9B, UVRAG (both autophagy genes) and MCOLN1 (a lysosomal gene) at 24 hours post-exposure. PubMed

Go to the HIV-1, Human Interaction Database

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables phospholipid scramblase activity ISS
Inferred from Sequence or Structural Similarity
more info
 
Process Evidence Code Pubs
acts_upstream_of_or_within autophagosome assembly IDA
Inferred from Direct Assay
more info
PubMed 
involved_in autophagy of mitochondrion IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in bone morphogenesis ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in late nucleophagy IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in plasma membrane phospholipid scrambling IEA
Inferred from Electronic Annotation
more info
 
involved_in positive regulation of necrotic cell death ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in protein localization to phagophore assembly site IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Component Evidence Code Pubs
located_in Golgi membrane ISS
Inferred from Sequence or Structural Similarity
more info
 
is_active_in autophagosome IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in endoplasmic reticulum membrane ISS
Inferred from Sequence or Structural Similarity
more info
 
is_active_in phagophore assembly site IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in phagophore assembly site membrane IEA
Inferred from Electronic Annotation
more info
 
located_in recycling endosome membrane ISS
Inferred from Sequence or Structural Similarity
more info
 
located_in trans-Golgi network ISS
Inferred from Sequence or Structural Similarity
more info
 

General protein information

Preferred Names
autophagy-related protein 9B
Names
APG9-like 2
ATG9 autophagy related 9 homolog B
autophagy 9-like 2 protein
endothelial nitric oxide synthase antisense
nitric oxide synthase 3-overlapping antisense gene protein

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_030317.1 RefSeqGene

    Range
    5006..14349
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001317056.2NP_001303985.1  autophagy-related protein 9B

    Status: REVIEWED

    Source sequence(s)
    AC010973, AY515311, BM821239, BU741121, BX380863, BX420361
    Consensus CDS
    CCDS83242.1
    UniProtKB/Swiss-Prot
    Q674R7, Q8N8I8
    Related
    ENSP00000491504.1, ENST00000639579.2
    Conserved Domains (1) summary
    pfam04109
    Location:323679
    APG9; Autophagy protein Apg9

RNA

  1. NR_073169.1 RNA Sequence

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) has alternate 5' exon structure, lacks an internal exon in the central region, and uses alternate exons in the 3' region, compared to variant 3. This variant is represented as non-coding because use of the expected translational start codon, as used in variant 1, results in a significantly truncated ORF and renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
    Source sequence(s)
    AI221785, AI243432, AY515311, BC128587
  2. NR_133652.1 RNA Sequence

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) uses an alternate 3' structure compared to variant 3. This variant is represented as non-coding because the use of the 5'-most expected translational start codon renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
    Source sequence(s)
    AC010973, AY515311

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 110 details...Open this link in a new tab

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000007.14 Reference GRCh38.p14 Primary Assembly

    Range
    151012209..151024499 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011516065.3XP_011514367.3  autophagy-related protein 9B isoform X1

    UniProtKB/Swiss-Prot
    Q8N8I8
    Related
    ENSP00000475737.2, ENST00000605952.5

RNA

  1. XR_007060009.1 RNA Sequence

  2. XR_002956421.2 RNA Sequence

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060931.1 Alternate T2T-CHM13v2.0

    Range
    152185332..152197622 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)